R357W (p.Arg357Trp) variant of CYP21A2 (Steroid 21-hydroxylase)
R357W (p.Arg357Trp) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CYP21A2-related disorder; not provided; 21-Hydroxylase-Deficient Congenital Adre. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and published literature.
R357W (p.Arg357Trp) variant details
- p.Arg357Trp
- 1000Genomes rs147390813
- ExAC rs147390813
- gnomAD rs147390813
- Pathogenic
- CYP21A2-related disorder; not provided; 21-Hydroxylase-Deficient Congenital Adre
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Most common in the 1KG:CDX population (allele frequency 0.0059)
- Cited in: Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based… (PMID 10051010)
- Cited in: Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative… (PMID 10364682)